MUC5B

mucin 5B, oligomeric mucus/gel-forming, the group of Mucins|MicroRNA protein coding host genes

Basic information

Region (hg38): 11:1223066-1262172

Previous symbols: [ "MUC5" ]

Links

ENSG00000117983 ∙ NCBI:727897 ∙ OMIM:600770 ∙ HGNC:7516 ∙ Uniprot:Q9HC84 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• interstitial lung disease (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MUC5B gene.

• not_specified (1351 variants)
• not_provided (318 variants)
• Interstitial_lung_disease_2 (22 variants)
• MUC5B-related_disorder (10 variants)
• Susceptibility_to_severe_COVID-19 (1 variants)
• Pulmonary_fibrosis (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MUC5B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002458.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			4	143	23	170
missense			1192	198	30	1420
nonsense		1	1			2
start loss						0
frameshift		1	3			4
splice donor/acceptor (+/-2bp)			1			1
Total	0	2	1201	341	53

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MUC5B	protein_coding	protein_coding	ENST00000529681	49	39111

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000144	124724	0	63	124787	0.000252

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.84	3816	3.35e+3	1.14	0.000221	36101
Missense in Polyphen		85	69.407	1.2247		672
Synonymous	-10.4	2073	1.55e+3	1.34	0.000119	13090
Loss of Function	9.68	30	164	0.183	0.00000784	1792

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000609	0.000598
Ashkenazi Jewish	0.000411	0.000397
East Asian	0.000226	0.000222
Finnish	0.000141	0.000139
European (Non-Finnish)	0.000345	0.000318
Middle Eastern	0.000226	0.000222
South Asian	0.000106	0.0000980
Other	0.000332	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Gel-forming mucin that is thought to contribute to the lubricating and viscoelastic properties of whole saliva and cervical mucus.
• Disease: DISEASE: Pulmonary fibrosis, idiopathic (IPF) [MIM:178500]: A lung disease characterized by shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees of inflammation and fibrosis on biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease. {ECO:0000269|PubMed:21506741, ECO:0000269|PubMed:21506748}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. A common polymorphism in the promoter of MUC5B is associated with familial interstitial pneumonia and idiopathic pulmonary fibrosis, suggesting that dysregulated MUC5B expression in the lung may be involved in the pathogenesis of pulmonary fibrosis (PubMed:21506741). {ECO:0000269|PubMed:21506741}.
• Pathway: Salivary secretion - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Lung fibrosis;Post-translational protein modification;Dectin-2 family;Metabolism of proteins;C-type lectin receptors (CLRs);Innate Immune System;Immune System;Termination of O-glycan biosynthesis;O-linked glycosylation of mucins;O-linked glycosylation (Consensus)

Intolerance Scores

• loftool: 0.243
• rvis_EVS: 16.52
• rvis_percentile_EVS: 99.98

Haploinsufficiency Scores

• pHI: 0.0783
• hipred: N
• hipred_score: 0.403

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.612

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Muc5b
• Phenotype: immune system phenotype; hearing/vestibular/ear phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); respiratory system phenotype; homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: stimulatory C-type lectin receptor signaling pathway;O-glycan processing
• Cellular component: extracellular space;Golgi lumen;plasma membrane;intracellular membrane-bounded organelle;extracellular exosome
• Molecular function: protein binding